Fragile X syndrome carrier screening in pregnant women in Chinese Han population (Q90999236)

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18 April 2020

title

Fragile X syndrome carrier screening in pregnant women in Chinese Han population (English)

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18 April 2020

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Shin-Yu Lin

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author name string

Chia-Cheng Hung

1

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Yu-Chu Wang

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Chih-Ling Chen

4

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18 April 2020

Tze-Kang Lin

5

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18 April 2020

Yi-Ning Su

6

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18 April 2020

Ming-Wei Lin

7

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18 April 2020

Jessica Kang

8

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Yi-Yun Tai

9

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18 April 2020

Wen-Wei Hsu

10

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18 April 2020

publication date

29 October 2019

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18 April 2020

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volume

9

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issue

1

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page(s)

15456

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Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

18 April 2020

cites work

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7 January 2021

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

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7 January 2021

Size bias of fragile X premutation alleles in late-onset movement disorders.

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7 January 2021

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype

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7 January 2021

Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis

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7 January 2021

Allele distribution at the FMR1 locus in the general Chinese population

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7 January 2021

Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

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7 January 2021

Fragile X carrier screening in Korean women of reproductive age.

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7 January 2021

ACMG position statement on prenatal/preconception expanded carrier screening

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7 January 2021

Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population

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7 January 2021

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies

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7 January 2021

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

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7 January 2021

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

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7 January 2021

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

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7 January 2021

Committee Opinion No. 691: Carrier Screening for Genetic Conditions

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7 January 2021

Fragile X syndrome and deletions in FMR1: New case and review of the literature

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7 January 2021

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening

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7 January 2021

Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

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7 January 2021

The quest for fragile X biomarkers

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7 January 2021

In Silico Analysis of FMR1 Gene Missense SNPs

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7 January 2021

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

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7 January 2021

Challenges in prenatal screening and counselling for fragile X syndrome

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7 January 2021

Fragile X syndrome: a review of clinical and molecular diagnoses

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7 January 2021

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

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7 January 2021

Premature ovarian failure in the fragile X syndrome

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7 January 2021

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

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7 January 2021

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

1 reference

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7 January 2021

10.1038/S41598-019-51726-4

Identifiers

DOI

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18 April 2020

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18 April 2020

PubMed publication ID

31664061

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